Ficolin 3 deficiency

Preferred Label : Ficolin 3 deficiency;

CISMeF acronym : LCAPD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lectin complement activation pathway, defect in, 3; Fcn3 deficiency; LCAPD3;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ficolin 3 gene (FCN3, 604973.0001);

Laboratory abnormalities : Decreased serum ficolin-3;

Prefixed ID : #613860;

Details

Origin ID

613860;

UMLS CUI

C3151226;

Currated CISMeF NLP mapping
- Immunodeficiency due to ficolin 3 deficiency (disorder) [SNOMED CT concept]
- Immunodeficiency due to ficolin3 deficiency [ORDO Disease]
- Immunodeficiency with ficolin-3 deficiency [ICD-11 More detail]
Genes related to phenotype
- Ficolin 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Necrotizing enterocolitis [HPO term]
- Recurrent Staphylococcus aureus infections [HPO term]
- Recurrent abscess formation [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Verrucae [HPO term]
ORDO concept(s)
- Immunodeficiency due to ficolin3 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency due to ficolin3 deficiency [ORDO Disease]
- Immunodeficiency with ficolin-3 deficiency [ICD-11 More detail]

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